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    TGM5 transglutaminase 5 [ Homo sapiens (human) ]

    Gene ID: 9333, updated on 10-Dec-2024

    Summary

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    Official Symbol
    TGM5provided by HGNC
    Official Full Name
    transglutaminase 5provided by HGNC
    Primary source
    HGNC:HGNC:11781
    See related
    Ensembl:ENSG00000104055 MIM:603805; AllianceGenome:HGNC:11781
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TGX; PSS2; TGM6; TGMX; TG(X); TGASE5; TGASEX
    Summary
    This gene encodes a member of the transglutaminase family. The encoded protein catalyzes formation of protein cross-links between glutamine and lysine residues, often resulting in stabilization of protein assemblies. This reaction is calcium dependent. Mutations in this gene have been associated with acral peeling skin syndrome. [provided by RefSeq, Oct 2009]
    Expression
    Biased expression in skin (RPKM 7.6), esophagus (RPKM 3.4) and 1 other tissue See more
    Orthologs
    mouse all
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    Genomic context

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    See TGM5 in Genome Data Viewer
    Location:
    15q15.2
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (43232590..43266928, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (41039883..41074220, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (43524788..43559126, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903478 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6383 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6384 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9310 Neighboring gene cyclin D1 binding protein 1 Neighboring gene Sharpr-MPRA regulatory region 15360 Neighboring gene erythrocyte membrane protein band 4.2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9311 Neighboring gene ATP synthase peripheral stalk subunit d pseudogene 1 Neighboring gene transglutaminase 7 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr15:43589862-43590498

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Acral peeling skin syndrome resulting from mutations in TGM5. Cañueto J, et al. J Eur Acad Dermatol Venereol, 2016 Mar. PMID 25510201
    2. A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome. Cassidy AJ, et al. Am J Hum Genet, 2005 Dec. PMID 16380904, Free PMC Article
    3. Inactive and highly active, proteolytically processed transglutaminase-5 in epithelial cells. Pietroni V, et al. J Invest Dermatol, 2008 Dec. PMID 18509357
    4. A missense mutation in TGM5 causes acral peeling skin syndrome in a Tunisian family. Kharfi M, et al. J Invest Dermatol, 2009 Oct. PMID 19440220
    5. Acral peeling skin syndrome with TGM5 gene mutations may resemble epidermolysis bullosa simplex in young individuals. Kiritsi D, et al. J Invest Dermatol, 2010 Jun. PMID 20164844

    See all (38) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Phenotypic suppression of acral peeling skin syndrome in a patient with autosomal recessive congenital ichthyosis.
      Title: Phenotypic suppression of acral peeling skin syndrome in a patient with autosomal recessive congenital ichthyosis.
    2. Acral PSS (APSS) (OMIM 609796), typically non-inflammatory, is confined to distal extremities with localized exfoliation of the epidermis. It is caused by mutations in the TGM5 gene, encoding transglutaminase 5[3] or in the CTSA gene, encoding cystatin A and it is inherited in autosomal recessive pattern
      Title: Acral peeling skin syndrome resulting from mutations in TGM5.
    3. We report both European and non-European families with acral peeling skin syndrome carrying mutations in the TGM5 gene. In 5 patients, we found 3 novel mutations: c.1001+2_1001+3del, c.1171G>A and c.1498C>T.
      Title: Novel TGM5 mutations in acral peeling skin syndrome.
    4. Data trebles the number of TMG5 mutations and provides further evidence that pCly113Cys is a founder mutation in the European population.
      Title: Under-recognition of acral peeling skin syndrome: 59 new cases with 15 novel mutations.
    5. study concludes polymorphisms of TGM5, PPAP2B and PSMA4 are not major contributors tonon-small cell lung cancer susceptibility in never-smoking hinese population, this primarily can be attributed to the significantly distinct genetic background of Asian populations from western populations
      Title: Association between TGM5, PPAP2B and PSMA4 polymorphisms and NSCLC in never-smoking Chinese population.
    6. Genetic variation in the epidermal transglutaminase genes is not associated with atopic dermatitis.
      Title: Genetic variation in the epidermal transglutaminase genes is not associated with atopic dermatitis.
    7. TGM5 mutations impact epidermal differentiation in acral peeling skin syndrome.
      Title: TGM5 mutations impact epidermal differentiation in acral peeling skin syndrome.
    8. analysis of a recurrent mutation in the TGM5 gene in European patients with acral peeling skin syndrome
      Title: A recurrent mutation in the TGM5 gene in European patients with acral peeling skin syndrome.
    9. Acral peeling skin syndrome with TGM5 gene mutations may resemble epidermolysis bullosa simplex in young individuals.
      Title: Acral peeling skin syndrome with TGM5 gene mutations may resemble epidermolysis bullosa simplex in young individuals.
    10. TG5 full-length enzyme has very low enzymatic activity, while the 53-kDa proteolytically processed form is highly active.
      Title: Inactive and highly active, proteolytically processed transglutaminase-5 in epithelial cells.
    Submit: New GeneRIF Correction See all GeneRIFs (16)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Acral peeling skin syndrome
    MedGen: C1853354 OMIM: 609796 GeneReviews: Epidermolysis Bullosa Simplex
    		Compare labs

    EBI GWAS Catalog

    Description
    Deciphering the impact of common genetic variation on lung cancer risk: a genome-wide association study.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Cyclosporin (CsA) treatment prevents gp120-dependent induction of apoptosis by blocking the activation of Ca(2+)-dependent effector elements such as transglutaminase (TG) proteins PubMed
    Envelope transmembrane glycoprotein gp41 env The HIV-1 transmembrane glycoprotein gp41 is an amino acceptor and donor substrate for transglutaminase in vitro; soluble CD4 can block the transglutaminase-catalyzed incorporation of the polyamine spermidine into HIV-1 gp41 PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC141907

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein-glutamine gamma-glutamyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in epidermis development TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in protein modification process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    protein-glutamine gamma-glutamyltransferase 5
    Names
    TGase X
    TGase-5
    transglutaminase V
    transglutaminase X
    NP_004236.1
    NP_963925.2
    XP_011520532.1
    XP_054235200.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_016124.1 RefSeqGene

      Range
      4930..39268
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_004245.4 → NP_004236.1  protein-glutamine gamma-glutamyltransferase 5 isoform 2

      See identical proteins and their annotated locations for NP_004236.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform 2, also referred to as the short form), compared to isoform 1.
      Source sequence(s)
      AC009852, AC068724, AK298479, AW467571, BC119009, CA314704
      Consensus CDS
      CCDS32211.1
      UniProtKB/TrEMBL
      Q0II16
      Related
      ENSP00000220419.8, ENST00000349114.8
      Conserved Domains (4) summary
      smart00460
      Location:188 → 281
      TGc; Transglutaminase/protease-like homologues
      COG1305
      Location:192 → 289
      YebA; Transglutaminase-like enzyme, putative cysteine protease [Posttranslational modification, protein turnover, chaperones]
      pfam00868
      Location:6 → 63
      Transglut_N; Transglutaminase family
      pfam00927
      Location:538 → 635
      Transglut_C; Transglutaminase family, C-terminal ig like domain

    2. NM_201631.4 → NP_963925.2  protein-glutamine gamma-glutamyltransferase 5 isoform 1

      See identical proteins and their annotated locations for NP_963925.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC009852, AC068724, AK298479, AW467571, BC119009, CA314704
      Consensus CDS
      CCDS32212.1
      UniProtKB/Swiss-Prot
      O43548, O43549, Q0VF40, Q9UEZ4
      UniProtKB/TrEMBL
      Q0II16
      Related
      ENSP00000220420.5, ENST00000220420.10
      Conserved Domains (3) summary
      smart00460
      Location:270 → 363
      TGc; Transglutaminase/protease-like homologues
      pfam00868
      Location:4 → 121
      Transglut_N; Transglutaminase family
      pfam00927
      Location:620 → 717
      Transglut_C; Transglutaminase family, C-terminal ig like domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      43232590..43266928 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011522230.3 → XP_011520532.1  protein-glutamine gamma-glutamyltransferase 5 isoform X1

      Conserved Domains (1) summary
      pfam00927
      Location:277 → 374
      Transglut_C; Transglutaminase family, C-terminal ig like domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      41039883..41074220 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054379225.1 → XP_054235200.1  protein-glutamine gamma-glutamyltransferase 5 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O43548.4 GenPept UniProtKB/Swiss-Prot:O43548

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